rs786202601, CHEK2

N. diseases: 3
Disease: Li-Fraumeni Syndrome ×
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
206 1.000 0.120 22 28694059 frameshift variant T/- delins 0.700 1.000 1 2016 2016